Mutagenetix > Incidental Mutation

Incidental Mutation 'R6256:Dnmbp'

506154

Institutional Source

Beutler Lab

Gene Symbol

Dnmbp

Ensembl Gene

ENSMUSG00000025195

Gene Name

dynamin binding protein

Synonyms

2410003M15Rik, 2410003L07Rik, Tuba

MMRRC Submission

044373-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43846821-43940191 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43852281 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 560 (V560M)

Ref Sequence

ENSEMBL: ENSMUSP00000148421 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026209] [ENSMUST00000212032] [ENSMUST00000212048] [ENSMUST00000212396] [ENSMUST00000212592]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000026209
AA Change: V1317M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026209
Gene: ENSMUSG00000025195
AA Change: V1317M

Domain	Start	End	E-Value	Type
SH3	5	60	6.75e-14	SMART
SH3	69	126	3.33e-4	SMART
SH3	149	204	6.85e-15	SMART
SH3	247	302	8.43e-15	SMART
low complexity region	601	619	N/A	INTRINSIC
low complexity region	636	652	N/A	INTRINSIC
coiled coil region	694	755	N/A	INTRINSIC
low complexity region	756	764	N/A	INTRINSIC
RhoGEF	787	969	4.84e-39	SMART
BAR	999	1213	6.21e-55	SMART
SH3	1291	1350	4.62e-1	SMART
low complexity region	1354	1374	N/A	INTRINSIC
SH3	1519	1578	1.08e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157865

Predicted Effect

probably damaging
Transcript: ENSMUST00000212032
AA Change: V1313M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212048
AA Change: V1001M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212396
AA Change: V1317M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212592
AA Change: V560M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.2157

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

99% (74/75)

MGI Phenotype

FUNCTION: This gene encodes a member of the DBL family of guanine nucleotide exchange factors. The encoded protein has been proposed to regulate the actin cytoskeleton by specifically activating the Rho-family GTPase Cdc42. An interaction between the encoded protein and a Listeria protein has been shown to mediate Listeria infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 72,451,428	Q361L	probably damaging	Het
Abca7	A	G	10: 80,002,622	T577A	probably damaging	Het
Acad12	A	T	5: 121,614,086	V54E	probably benign	Het
Ago4	A	G	4: 126,520,226	Y91H	probably damaging	Het
Akr1b10	T	C	6: 34,387,688	V28A	probably damaging	Het
Ccdc33	T	A	9: 58,101,918		probably null	Het
Ccdc7a	T	C	8: 128,935,593		probably null	Het
Ces1f	A	T	8: 93,265,794	V343E	probably damaging	Het
Cftr	T	C	6: 18,274,661	L896P	probably damaging	Het
Csmd3	G	A	15: 47,669,729	P2375S	probably damaging	Het
Dnajb14	G	C	3: 137,908,362	A345P	probably damaging	Het
Dnajb14	C	T	3: 137,908,363	A345V	probably damaging	Het
Dnase1	G	A	16: 4,037,621	R24K	probably benign	Het
Dopey2	T	A	16: 93,807,214	I1981N	possibly damaging	Het
Eif3a	A	C	19: 60,771,026	S770A	possibly damaging	Het
Fbxl7	A	T	15: 26,553,002	C60S	probably benign	Het
Fras1	A	T	5: 96,733,843	D2478V	possibly damaging	Het
Hrnr	A	G	3: 93,322,611	D52G	probably damaging	Het
Jmjd1c	T	A	10: 67,220,408	L823M	probably damaging	Het
Kdm1a	G	T	4: 136,568,600	C172*	probably null	Het
Kdm6b	C	T	11: 69,406,729	E295K	probably damaging	Het
Mepe	A	T	5: 104,337,074	M27L	probably benign	Het
Mogat2	A	T	7: 99,219,895	H305Q	probably damaging	Het
Mst1r	T	A	9: 107,917,266	Y1215N	probably damaging	Het
Muc5ac	A	T	7: 141,789,795	H48L	possibly damaging	Het
Myo7b	T	C	18: 31,983,695	D953G	probably damaging	Het
Ocel1	T	C	8: 71,371,828		probably benign	Het
Pcdhb6	A	G	18: 37,335,925	D633G	probably damaging	Het
Ppm1l	A	G	3: 69,497,897	I176V	probably benign	Het
Sall3	C	T	18: 80,969,861	R1120H	possibly damaging	Het
Sbf1	G	A	15: 89,300,867	P1018S	probably benign	Het
Setbp1	T	C	18: 78,857,257	Y1065C	probably damaging	Het
Slc25a2	T	C	18: 37,637,723		probably null	Het
Slc4a2	C	A	5: 24,435,890	T729K	probably damaging	Het
Sptlc2	T	C	12: 87,355,531	E207G	probably damaging	Het
Sult6b1	A	T	17: 78,906,914	F27I	probably benign	Het
Syf2	A	T	4: 134,934,578	K84N	probably damaging	Het
Tmem209	A	T	6: 30,497,167	N183K	probably benign	Het
Tmem232	G	T	17: 65,478,402	Q188K	possibly damaging	Het
Tomm70a	A	T	16: 57,152,692	T598S	probably benign	Het
Ttll13	A	G	7: 80,258,304	T556A	probably benign	Het
Vmn2r120	A	T	17: 57,524,700	L363*	probably null	Het
Xpo6	G	T	7: 126,108,619	Q872K	probably damaging	Het
Xrra1	A	C	7: 99,914,464	S553R	probably damaging	Het
Zfy1	A	T	Y: 738,765	V147E	unknown	Homo
Zfy2	T	C	Y: 2,116,267	I258V	probably benign	Homo

Other mutations in Dnmbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00477:Dnmbp	APN	19	43902479	missense	probably damaging	1.00
IGL01301:Dnmbp	APN	19	43902354	missense	probably benign	0.04
IGL01443:Dnmbp	APN	19	43902870	missense	probably damaging	1.00
IGL01569:Dnmbp	APN	19	43874856	missense	probably benign	0.14
IGL01818:Dnmbp	APN	19	43901165	missense	probably damaging	1.00
IGL01989:Dnmbp	APN	19	43867555	missense	probably damaging	1.00
IGL02111:Dnmbp	APN	19	43867555	missense	probably damaging	1.00
IGL02666:Dnmbp	APN	19	43854127	splice site	probably benign
IGL02736:Dnmbp	APN	19	43849770	splice site	probably benign
ANU18:Dnmbp	UTSW	19	43902354	missense	probably benign	0.04
R0013:Dnmbp	UTSW	19	43902231	missense	probably benign	0.00
R0013:Dnmbp	UTSW	19	43902231	missense	probably benign	0.00
R0032:Dnmbp	UTSW	19	43902719	missense	probably damaging	1.00
R0032:Dnmbp	UTSW	19	43902719	missense	probably damaging	1.00
R0101:Dnmbp	UTSW	19	43874160	missense	possibly damaging	0.94
R0129:Dnmbp	UTSW	19	43850027	missense	probably benign	0.03
R0288:Dnmbp	UTSW	19	43902459	missense	possibly damaging	0.77
R0322:Dnmbp	UTSW	19	43854846	missense	probably damaging	1.00
R0426:Dnmbp	UTSW	19	43852436	splice site	probably benign
R0432:Dnmbp	UTSW	19	43854857	nonsense	probably null
R0497:Dnmbp	UTSW	19	43856640	splice site	probably benign
R1306:Dnmbp	UTSW	19	43901779	missense	probably benign	0.00
R1765:Dnmbp	UTSW	19	43902140	missense	possibly damaging	0.61
R1800:Dnmbp	UTSW	19	43901720	missense	probably benign	0.00
R1846:Dnmbp	UTSW	19	43902747	missense	probably damaging	1.00
R1916:Dnmbp	UTSW	19	43901568	missense	possibly damaging	0.85
R2001:Dnmbp	UTSW	19	43850173	missense	possibly damaging	0.76
R2131:Dnmbp	UTSW	19	43854311	missense	probably damaging	1.00
R2156:Dnmbp	UTSW	19	43901907	missense	possibly damaging	0.95
R2238:Dnmbp	UTSW	19	43868864	missense	possibly damaging	0.90
R2372:Dnmbp	UTSW	19	43902320	missense	probably benign	0.01
R4817:Dnmbp	UTSW	19	43849972	missense	probably benign	0.05
R5093:Dnmbp	UTSW	19	43849876	missense	probably damaging	0.98
R5249:Dnmbp	UTSW	19	43902440	missense	probably damaging	0.98
R5970:Dnmbp	UTSW	19	43854171	missense	probably benign	0.28
R6168:Dnmbp	UTSW	19	43850240	missense	probably damaging	1.00
R6189:Dnmbp	UTSW	19	43890309	missense	probably benign	0.00
R6189:Dnmbp	UTSW	19	43901511	missense	probably benign	0.05
R6239:Dnmbp	UTSW	19	43848185	missense	probably benign	0.11
R6461:Dnmbp	UTSW	19	43867525	critical splice donor site	probably null
R6599:Dnmbp	UTSW	19	43856586	missense	probably damaging	0.96
R6704:Dnmbp	UTSW	19	43901213	missense	probably damaging	1.00
R7350:Dnmbp	UTSW	19	43901505	missense	probably damaging	1.00
R7355:Dnmbp	UTSW	19	43901741	missense	probably benign
R7409:Dnmbp	UTSW	19	43890557	missense	unknown
R7548:Dnmbp	UTSW	19	43889399	missense	probably benign	0.40
R7755:Dnmbp	UTSW	19	43850086	missense	probably benign
R7814:Dnmbp	UTSW	19	43854176	missense	probably benign	0.05
R7954:Dnmbp	UTSW	19	43902303	missense	probably benign
R7955:Dnmbp	UTSW	19	43902323	missense	probably benign	0.01
R8282:Dnmbp	UTSW	19	43890566	missense	unknown
R8385:Dnmbp	UTSW	19	43889651	missense	probably benign	0.01
R8696:Dnmbp	UTSW	19	43874223	missense	probably damaging	1.00
R8738:Dnmbp	UTSW	19	43912238	missense	probably damaging	0.98
R8819:Dnmbp	UTSW	19	43901415	missense	probably benign	0.43
R8824:Dnmbp	UTSW	19	43849837	missense	probably benign
R8902:Dnmbp	UTSW	19	43901786	missense	probably benign	0.00
R8906:Dnmbp	UTSW	19	43890242	missense	probably benign	0.01
R8977:Dnmbp	UTSW	19	43852312	missense	probably damaging	1.00
R9628:Dnmbp	UTSW	19	43870207	missense	probably damaging	0.99
R9635:Dnmbp	UTSW	19	43867535	missense	probably benign	0.39
R9771:Dnmbp	UTSW	19	43866592	missense	probably damaging	0.96
Z1088:Dnmbp	UTSW	19	43874984	missense	probably benign	0.01
Z1088:Dnmbp	UTSW	19	43902122	missense	probably benign	0.00
Z1176:Dnmbp	UTSW	19	43866688	missense	probably damaging	0.99
Z1176:Dnmbp	UTSW	19	43889367	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- AACACAGCGACATCTTCAGG -3'
(R):5'- TGCCAGCGTGAGTTTTCTC -3'

Sequencing Primer
(F):5'- GCAACTGTCTCTGAAAGTCATC -3'
(R):5'- GAGTTTTCTCATTGGCCCTGTTCTAC -3'

Posted On

2018-02-28